{"Name":"Benign recurrent intrahepatic cholestasis type 2","DiseaseID__c":"GARD:0010029","id":10029,"encodedName":"benign-recurrent-intrahepatic-cholestasis-type-2","IsDeleted":false,"Disease_Name_Full__c":"Benign recurrent intrahepatic cholestasis type 2","Xref_IDs__c":"C2608083; C535934; DOID:0070232; MEDGEN:435857; MONDO:0011559; OMIM:605479; ORPHA:99961","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:99961","Disease_Description__c":"ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual's clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers.","GARD_Name__c":"Benign recurrent intrahepatic cholestasis type 2","GARD_Synonym__c":"bric type 2; bric2; cholestasis, benign recurrent intrahepatic, type 2; recurrent familial intrahepatic cholestasis 2","Curated_Disease_Description_Source__c":"ORPHA:99961","Curated_Disease_Description__c":"This rare liver disease involves a range of problems caused by lack of function of a gene called ATP8B1, which is checked using clinical findings and lab tests such as liver biopsy. It mainly causes cholestasis, which means bile does not flow properly from the liver, leading to itching and sudden episodes of yellowing of the skin and eyes that often begin in the first months of life. Some babies also develop problems with blood clotting due to low vitamin K, poor absorption of nutrients, and poor weight gain early in infancy. In the most severe form, ongoing liver damage leads to scarring of the liver and liver failure at a young adult age, while milder forms cause repeated attacks of itching and jaundice without ongoing liver damage. In milder cases, attacks may be brought on by medicines, hormone changes such as pregnancy or birth control pills, or cancer, but sometimes the triggers are unclear. Across most instances of the disease, people often have sensorineural hearing loss, a type of hearing loss caused by problems in the inner ear or hearing nerve.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99961","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011559","ORPHANET_ID__c":"ORPHA:99961","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colestasis intrahepática recurrente benigna tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"colestasis intrahepática recurrente benigna tipo 2","Spanish_GARD_Synonym__c":"bric tipo 2; bric2","Category_Linearization__c":"ORPHA:57146","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"This rare liver disease involves a range of problems caused by lack of function of a gene called ATP8B1, which is checked using clinical findings and lab tests such as liver biopsy. It mainly causes cholestasis, which means bile does not flow properly from the liver, leading to itching and sudden episodes of yellowing of the skin and eyes that often begin in the first months of life. Some babies also develop problems with blood clotting due to low vitamin K, poor absorption of nutrients, and poor weight gain early in infancy. In the most severe form, ongoing liver damage leads to scarring of the liver and liver failure at a young adult age, while milder forms cause repeated attacks of itching and jaundice without ongoing liver damage. In milder cases, attacks may be brought on by medicines, hormone changes such as pregnancy or birth control pills, or cancer, but sometimes the triggers are unclear. Across most instances of the disease, people often have sensorineural hearing loss, a type of hearing loss caused by problems in the inner ear or hearing nerve.","Curated_Disease_Description_Source__c":"ORPHA:99961","GARD_Synonym__c":"bric type 2; bric2; cholestasis, benign recurrent intrahepatic, type 2; recurrent familial intrahepatic cholestasis 2","Name":"Benign recurrent intrahepatic cholestasis type 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network","Website__c":"https://www.pfic.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010029","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535934","Source__c":"MONDO:0011559","Xref__c":"C535934"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070232","Source__c":"MONDO:0011559","Xref__c":"DOID:0070232"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=435857","Source__c":"C2608083","Xref__c":"MEDGEN:435857"},{"URL__c":"https://www.omim.org/entry/605479","Source__c":"C2608083; MONDO:0011559; ORPHA:99961","Xref__c":"OMIM:605479"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2608083","Source__c":"C2608083","Xref__c":"C2608083"},{"URL__c":"https://www.orpha.net/en/disease/detail/99961","Source__c":"C2608083; MONDO:0011559; ORPHA:99961","Xref__c":"ORPHA:99961"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011559","Source__c":"GARD:0010029","Xref__c":"MONDO:0011559"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcb11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605479","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605479","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002908","HPO_Synonym__c":"Direct hyperbilirubinemia","HPO_Name__c":"Conjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:605479","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605479","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in the small bile ducts within the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001406","HPO_Name__c":"Intrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605479","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605479","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["bric type 2"," bric2"," cholestasis, benign recurrent intrahepatic, type 2"," recurrent familial intrahepatic cholestasis 2"]}